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Because the KIT D816V mutation is suggested to correlate with the occurrence of SM in adult patients and to contribute to its progression [1], [13], we next examined whether it correlates with the OPA score (Table 1).
A possible mechanism of ARE generation from Alu via retroposition and regular pattern mutation is suggested.
However, in the present case, a pathogenic effect of this mutation is suggested by several data.
An alternative model for the effects of the V40G mutation is suggested by inspection of crystal structures.
Similar(56)
Exons other than genetically mutated sites were also amplified, and if somatic intragenic mutation was suggested, the PCR product was subcloned and sequenced to clarify the second hit.
In family 8344, a mutation was suggested by dHPLC in the amplicon encompassing exon 3 of the hMSH2 gene.
In the Welsh population, two heterozygous W546X mutations were detected in 368 individuals, and the W546X mutation was suggested to be a potential major contributor to hypothyroidism [ 15].
In the first paper, the lack of a mutation was suggested [ 26]; however, an additional analysis revealed a homozygous splice-site mutation in intron 4 of TP53 [ 27].
The above described mutation was suggested to be present as a germinal and a somatic mosaic in the grandmother with mild clinical course of ADPKD.
From 1995 6 8 to more recently 9, 10 DNA break-dependent stress-induced mutation was suggested to be peculiar to conjugative plasmids, and thus potentially not generally important.
A glimpse of the complexity that lies in exploring H3K27 mutations is suggested by their inherent nature to alter global levels of H3K27me3, even though in the case of H3.3K27M mutations H3.3 is a minimal contributor to total histone H3 levels [ 43].
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